Incidental Mutation 'R7331:Uqcc1'
ID 569226
Institutional Source Beutler Lab
Gene Symbol Uqcc1
Ensembl Gene ENSMUSG00000005882
Gene Name ubiquinol-cytochrome c reductase complex assembly factor 1
Synonyms mbFZb, 2410003P15Rik, 2310079L17Rik, Uqcc, Cbp3, Bfzp, 3110038N19Rik
MMRRC Submission 045424-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.910) question?
Stock # R7331 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 155688814-155772230 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 155753731 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 48 (V48A)
Ref Sequence ENSEMBL: ENSMUSP00000105264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006036] [ENSMUST00000109631] [ENSMUST00000109632] [ENSMUST00000109636] [ENSMUST00000133726] [ENSMUST00000136933] [ENSMUST00000142655] [ENSMUST00000151078] [ENSMUST00000152766] [ENSMUST00000159238]
AlphaFold Q9CWU6
Predicted Effect probably benign
Transcript: ENSMUST00000006036
AA Change: V48A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000006036
Gene: ENSMUSG00000005882
AA Change: V48A

DomainStartEndE-ValueType
Pfam:Ubiq_cyt_C_chap 105 191 8.1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109631
SMART Domains Protein: ENSMUSP00000105259
Gene: ENSMUSG00000005882

DomainStartEndE-ValueType
Pfam:Ubiq_cyt_C_chap 63 203 2.1e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109632
AA Change: V48A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105260
Gene: ENSMUSG00000005882
AA Change: V48A

DomainStartEndE-ValueType
Pfam:Ubiq_cyt_C_chap 131 191 4.3e-19 PFAM
Pfam:Ubiq_cyt_C_chap 188 245 2.9e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109636
AA Change: V48A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105264
Gene: ENSMUSG00000005882
AA Change: V48A

DomainStartEndE-ValueType
Pfam:Ubiq_cyt_C_chap 131 271 6.7e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133726
AA Change: V48A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000136933
AA Change: V48A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000139232
SMART Domains Protein: ENSMUSP00000123019
Gene: ENSMUSG00000005882

DomainStartEndE-ValueType
Pfam:Ubiq_cyt_C_chap 98 238 2e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142655
Predicted Effect probably benign
Transcript: ENSMUST00000151078
Predicted Effect probably benign
Transcript: ENSMUST00000152766
AA Change: V42A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122886
Gene: ENSMUSG00000005882
AA Change: V42A

DomainStartEndE-ValueType
Pfam:Ubiq_cyt_C_chap 98 238 3.4e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159238
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,331,728 (GRCm39) H47L possibly damaging Het
Adgrf5 T C 17: 43,748,484 (GRCm39) S438P probably damaging Het
Atg16l2 C A 7: 100,948,255 (GRCm39) K96N probably damaging Het
Bglap2 A T 3: 88,285,567 (GRCm39) M35K possibly damaging Het
Btbd1 T A 7: 81,465,720 (GRCm39) I209L probably damaging Het
Cdc34 T C 10: 79,521,146 (GRCm39) Y148H probably damaging Het
Clcc1 A G 3: 108,575,394 (GRCm39) D157G probably damaging Het
Csmd2 A T 4: 128,458,021 (GRCm39) probably null Het
Ctsj G A 13: 61,151,645 (GRCm39) S90L probably benign Het
Cycs A G 6: 50,542,532 (GRCm39) F37L probably benign Het
Dync2li1 T A 17: 84,955,086 (GRCm39) C248* probably null Het
Dzank1 A T 2: 144,332,190 (GRCm39) I382N probably benign Het
Eif4a3l2 G A 6: 116,529,130 (GRCm39) V336I probably benign Het
Enpp2 T C 15: 54,739,066 (GRCm39) I406V probably damaging Het
Ero1b A G 13: 12,615,015 (GRCm39) E282G probably damaging Het
Fastkd5 A T 2: 130,457,647 (GRCm39) N314K possibly damaging Het
Fbh1 A T 2: 11,768,797 (GRCm39) C300S probably benign Het
Fchsd1 T C 18: 38,101,823 (GRCm39) I49V possibly damaging Het
Foxn1 A G 11: 78,249,615 (GRCm39) Y637H probably damaging Het
Gabarap A G 11: 69,885,298 (GRCm39) E101G possibly damaging Het
Gm7247 A G 14: 51,601,792 (GRCm39) R22G probably damaging Het
Gm7694 A T 1: 170,129,180 (GRCm39) D116E possibly damaging Het
Gm9508 A G 10: 77,532,629 (GRCm39) C147R unknown Het
Gpr152 A G 19: 4,192,608 (GRCm39) M50V probably damaging Het
Hunk T A 16: 90,269,450 (GRCm39) N331K possibly damaging Het
Il1r2 A G 1: 40,162,409 (GRCm39) T351A probably benign Het
Iqub A G 6: 24,500,393 (GRCm39) V287A possibly damaging Het
Lix1 A T 17: 17,647,474 (GRCm39) T47S probably benign Het
Lrp1b A T 2: 40,553,622 (GRCm39) probably null Het
Nup107 G A 10: 117,606,103 (GRCm39) T500I probably damaging Het
Phf21b G C 15: 84,675,295 (GRCm39) R405G probably benign Het
Piezo2 A G 18: 63,241,101 (GRCm39) V709A probably damaging Het
Psme3ip1 T A 8: 95,309,564 (GRCm39) K143* probably null Het
Rfc1 T C 5: 65,468,387 (GRCm39) T109A probably damaging Het
Rpa1 A G 11: 75,203,941 (GRCm39) V302A probably damaging Het
Ryr2 A G 13: 11,760,517 (GRCm39) I1522T probably benign Het
Ryr3 C A 2: 112,594,010 (GRCm39) R2578L possibly damaging Het
Scgb2b18 C T 7: 32,872,681 (GRCm39) W41* probably null Het
Sdccag8 C G 1: 176,695,856 (GRCm39) Q387E possibly damaging Het
Slc25a17 G A 15: 81,213,346 (GRCm39) T119M probably damaging Het
Slc45a4 G T 15: 73,477,489 (GRCm39) Q16K probably benign Het
Slc4a1 G A 11: 102,252,245 (GRCm39) probably benign Het
Slc7a14 T C 3: 31,311,880 (GRCm39) T47A probably benign Het
Stard6 A G 18: 70,616,553 (GRCm39) R71G probably damaging Het
Tecr A G 8: 84,298,564 (GRCm39) V321A probably damaging Het
Ttc3 T A 16: 94,195,218 (GRCm39) F290L probably benign Het
V1rd19 T A 7: 23,703,308 (GRCm39) I258N probably damaging Het
Zar1 T A 5: 72,737,655 (GRCm39) E249V possibly damaging Het
Zfp101 T C 17: 33,601,559 (GRCm39) T66A possibly damaging Het
Zyx A G 6: 42,328,593 (GRCm39) H230R probably benign Het
Other mutations in Uqcc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01950:Uqcc1 APN 2 155,700,058 (GRCm39) missense probably damaging 1.00
IGL02883:Uqcc1 APN 2 155,753,749 (GRCm39) missense possibly damaging 0.93
R0433:Uqcc1 UTSW 2 155,752,288 (GRCm39) missense probably damaging 1.00
R1506:Uqcc1 UTSW 2 155,753,738 (GRCm39) missense probably damaging 0.98
R1579:Uqcc1 UTSW 2 155,763,641 (GRCm39) nonsense probably null
R4801:Uqcc1 UTSW 2 155,700,026 (GRCm39) splice site probably benign
R5049:Uqcc1 UTSW 2 155,752,341 (GRCm39) missense probably damaging 1.00
R6042:Uqcc1 UTSW 2 155,763,564 (GRCm39) missense possibly damaging 0.48
R6526:Uqcc1 UTSW 2 155,693,343 (GRCm39) missense probably damaging 1.00
R7548:Uqcc1 UTSW 2 155,751,309 (GRCm39) missense probably damaging 1.00
R7721:Uqcc1 UTSW 2 155,700,066 (GRCm39) missense probably benign 0.13
R7780:Uqcc1 UTSW 2 155,752,073 (GRCm39) splice site probably null
R8723:Uqcc1 UTSW 2 155,729,100 (GRCm39) nonsense probably null
R9104:Uqcc1 UTSW 2 155,743,217 (GRCm39) critical splice donor site probably null
R9366:Uqcc1 UTSW 2 155,771,995 (GRCm39) unclassified probably benign
R9412:Uqcc1 UTSW 2 155,693,329 (GRCm39) missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- TCAGGCTATCTGCTCAGGAGAC -3'
(R):5'- GGTACATACCAGATGCTGTTCTG -3'

Sequencing Primer
(F):5'- CAGAGGTGCACATATTCAGTTAG -3'
(R):5'- CAGATGCTGTTCTGGGTGCC -3'
Posted On 2019-09-13